Disease ID | Disease name | Source of annotation with NFIX | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS117550 | SOTOS SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 2 | NSD1, NFIX |
602535 | MARSHALL-SMITH SYNDROME | ClinVar, OMIM | link to OMIM | 1 | NFIX |
Download the gene annotation in CSV format
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Gene Expression | R-HSA-74160 | 2.72 |
RNA Polymerase III Abortive And Retractive Initiation | R-HSA-749476 | 7.66 |
RNA Polymerase III Transcription | R-HSA-74158 | 7.66 |
RNA Polymerase III Transcription Termination | R-HSA-73980 | 8.46 |
RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription | R-HSA-504046 | 6.16 |
GO term | GO ID | GO IC |
---|---|---|
nucleic acid binding | GO:0003676 | 1.44 |
transcription factor activity, sequence-specific DNA binding | GO:0003700 | 2.65 |
organic cyclic compound binding | GO:0097159 | 1.05 |
transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding | GO:0003705 | 5.23 |
nucleic acid binding transcription factor activity | GO:0001071 | 2.65 |
protein binding | GO:0005515 | 0.46 |
DNA binding | GO:0003677 | 1.92 |
heterocyclic compound binding | GO:1901363 | 1.06 |
RNA polymerase II transcription factor activity, sequence-specific DNA binding | GO:0000981 | 3.29 |
binding | GO:0005488 | 0.18 |